#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CD22	933	broad.mit.edu	37	19	35832259	35832259	+	Silent	SNP	C	C	T			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr19:35832259C>T	ENST00000085219.5	+	8	1587	c.1521C>T	c.(1519-1521)gaC>gaT	p.D507D	CD22_ENST00000594250.1_Silent_p.D330D|CD22_ENST00000341773.6_Silent_p.D330D|CD22_ENST00000419549.2_Silent_p.D335D|CD22_ENST00000536635.2_Silent_p.D419D|CD22_ENST00000544992.2_Silent_p.D507D|CD22_ENST00000270311.6_Silent_p.D387D	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	507	Ig-like C2-type 5.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCCCCCGAGACGTGAGGGTCC	0.607																																					Ovarian(42;1009 1133 23674 26041)	ENST00000085219.5																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54						c.(1519-1521)gaC>gaT		CD22 molecule	OspA lipoprotein(DB00045)						28.0	28.0	28.0					19																	35832259		2203	4300	6503	SO:0001819	synonymous_variant	933				cell adhesion		protein binding|sugar binding	g.chr19:35832259C>T	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.1521C>T	19.37:g.35832259C>T						CD22_ENST00000594250.1_Silent_p.D330D|CD22_ENST00000544992.2_Silent_p.D507D|CD22_ENST00000536635.2_Silent_p.D419D|CD22_ENST00000419549.2_Silent_p.D335D|CD22_ENST00000341773.6_Silent_p.D330D|CD22_ENST00000270311.6_Silent_p.D387D	p.D507D	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		8	1587	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		507			Ig-like C2-type 5.		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Silent	SNP	ENST00000085219.5	37	c.1521C>T	CCDS12457.1																																																																																				0.607	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		7	27	0	0	0	1	0	7	27				
UROC1	131669	broad.mit.edu	37	3	126208213	126208213	+	Silent	SNP	C	C	T			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr3:126208213C>T	ENST00000290868.2	-	17	1667	c.1614G>A	c.(1612-1614)ccG>ccA	p.P538P	UROC1_ENST00000383579.3_Silent_p.P598P	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	538					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TCAGGACCACCGGCGCCTGTG	0.597																																						ENST00000290868.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39						c.(1612-1614)ccG>ccA		urocanate hydratase 1							105.0	93.0	97.0					3																	126208213		2203	4300	6503	SO:0001819	synonymous_variant	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126208213C>T	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1614G>A	3.37:g.126208213C>T						UROC1_ENST00000383579.3_Silent_p.P598P	p.P538P	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	17	1667	-			538					E9PE13|Q14C64|Q68CJ7	Silent	SNP	ENST00000290868.2	37	c.1614G>A	CCDS3038.1																																																																																				0.597	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		15	51	0	0	0	1	0	15	51				
AGGF1	55109	broad.mit.edu	37	5	76332530	76332530	+	Silent	SNP	T	T	G			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr5:76332530T>G	ENST00000312916.7	+	4	1048	c.666T>G	c.(664-666)ggT>ggG	p.G222G		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	222					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		ACAGCACTGGTTTCTATTATG	0.423																																						ENST00000312916.7																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20						c.(664-666)ggT>ggG		angiogenic factor with G patch and FHA domains 1							48.0	49.0	49.0					5																	76332530		2203	4300	6503	SO:0001819	synonymous_variant	55109				angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding	g.chr5:76332530T>G	AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"""G patch domain containing"""	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.666T>G	5.37:g.76332530T>G							p.G222G	NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)	4	1048	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	222					O00581|Q53YS3|Q9BU84|Q9NW66	Silent	SNP	ENST00000312916.7	37	c.666T>G	CCDS4035.1																																																																																				0.423	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219971.2	NM_018046		3	61	0	0	0	1	0	3	61				
PHPT1	29085	broad.mit.edu	37	9	139748448	139748448	+	IGR	SNP	C	C	T			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr9:139748448C>T	ENST00000247665.10	+	0	890				MAMDC4_ENST00000445819.1_Missense_Mutation_p.T197I|MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Missense_Mutation_p.T197I	NM_014172.4	NP_054891.2	Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1						negative regulation of ATP citrate synthase activity (GO:2000984)|negative regulation of lyase activity (GO:0051350)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-histidine dephosphorylation (GO:0035971)|positive regulation of cell motility (GO:2000147)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|protein dephosphorylation (GO:0006470)|regulation of actin cytoskeleton reorganization (GO:2000249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium channel inhibitor activity (GO:0019855)|ion channel binding (GO:0044325)|phosphohistidine phosphatase activity (GO:0008969)|phosphoprotein phosphatase activity (GO:0004721)			NS(1)|large_intestine(1)|lung(1)	3	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CTTCAGGTGACCTTCTCTGCC	0.607																																						ENST00000445819.1																			0				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19						c.(589-591)aCc>aTc		MAM domain containing 4							107.0	102.0	103.0					9																	139748448		2203	4300	6503	SO:0001628	intergenic_variant	158056				protein transport	integral to membrane		g.chr9:139748448C>T	AF131857	CCDS7009.1, CCDS48060.1	9q34.3	2008-02-05			ENSG00000054148	ENSG00000054148	3.1.3.-		30033	protein-coding gene	gene with protein product	"""phosphohistidine phosphatase 14kDa"", "" sex-regulated protein janus-a"""	610167				11042152, 8619474	Standard	NM_014172		Approved	PHP14, HSPC141, CGI-202, DKFZp564M173, bA216L13.10	uc004cjq.4	Q9NRX4	OTTHUMG00000020950		9.37:g.139748448C>T						MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Missense_Mutation_p.T197I	p.T197I			Q6UXC1	AEGP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	6	640	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	197			MAM 1.		B1AMX0|B1AMX1|Q9H0Y3	Missense_Mutation	SNP	ENST00000247665.10	37	c.590C>T	CCDS7009.1	.	.	.	.	.	.	.	.	.	.	.	15.53	2.861027	0.51482	.	.	ENSG00000177943	ENST00000317446;ENST00000445819	T;T	0.01854	4.6;4.6	4.25	4.25	0.50352	.	0.104649	0.42172	D	0.000747	T	0.01421	0.0046	N	0.11255	0.115	0.45867	D	0.998728	B	0.32573	0.376	B	0.38755	0.281	T	0.54761	-0.8245	10	0.06494	T	0.89	-34.2112	6.3561	0.21402	0.0:0.7976:0.0:0.2024	.	197	Q6UXC1-2	.	I	197	ENSP00000319388:T197I;ENSP00000411339:T197I	ENSP00000319388:T197I	T	+	2	0	MAMDC4	138868269	0.005000	0.15991	1.000000	0.80357	0.987000	0.75469	0.438000	0.21559	2.207000	0.71202	0.561000	0.74099	ACC		0.607	PHPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055150.1	NM_014172		17	124	0	0	0	1	0	17	124				
DOCK2	1794	broad.mit.edu	37	5	169454921	169454921	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr5:169454921G>T	ENST00000256935.8	+	34	3516	c.3436G>T	c.(3436-3438)Gac>Tac	p.D1146Y	DOCK2_ENST00000520908.1_Missense_Mutation_p.D638Y|DOCK2_ENST00000523351.1_3'UTR|MIR378E_ENST00000581976.1_RNA|DOCK2_ENST00000540750.1_Missense_Mutation_p.D207Y	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1146	Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGCCGAGGCGACGAGCAGTA	0.512																																						ENST00000256935.8																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(3436-3438)Gac>Tac		dedicator of cytokinesis 2							117.0	106.0	109.0					5																	169454921		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169454921G>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3436G>T	5.37:g.169454921G>T	ENSP00000256935:p.Asp1146Tyr					DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.D638Y|DOCK2_ENST00000540750.1_Missense_Mutation_p.D207Y	p.D1146Y	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		34	3516	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1146			DHR-2.|Interaction with CRKL.		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.3436G>T	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444885	0.83993	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.59772	0.24;0.24;0.24	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.82912	0.5140	M	0.93283	3.4	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.87641	0.2522	10	0.87932	D	0	.	18.8352	0.92159	0.0:0.0:1.0:0.0	.	638;1146	E7ERW7;Q92608	.;DOCK2_HUMAN	Y	1146;638;207	ENSP00000256935:D1146Y;ENSP00000429283:D638Y;ENSP00000438827:D207Y	ENSP00000256935:D1146Y	D	+	1	0	DOCK2	169387499	1.000000	0.71417	0.194000	0.23346	0.656000	0.38851	9.438000	0.97539	2.455000	0.83008	0.555000	0.69702	GAC		0.512	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		8	57	1	0	5.18039e-06	1	5.40563e-06	8	57				
KRTAP4-11	653240	broad.mit.edu	37	17	39274415	39274415	+	Silent	SNP	C	C	T	rs425487		TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr17:39274415C>T	ENST00000391413.2	-	1	191	c.153G>A	c.(151-153)agG>agA	p.R51R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.R51R(6)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCACTGGGGCCTGCAGCAGC	0.667																																						ENST00000391413.2																			6	Substitution - coding silent(6)	p.R51R(6)	endometrium(3)|kidney(2)|lung(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(151-153)agG>agA		keratin associated protein 4-11							9.0	15.0	13.0					17																	39274415		682	1579	2261	SO:0001819	synonymous_variant	653240					keratin filament		g.chr17:39274415C>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.153G>A	17.37:g.39274415C>T							p.R51R	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	191	-		Breast(137;0.000496)	51		Missing (in allele KAP4.14).	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Silent	SNP	ENST00000391413.2	37	c.153G>A	CCDS45675.1																																																																																				0.667	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			3	31	0	0	0	1	0	3	31				
DST	667	broad.mit.edu	37	6	56480467	56480467	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr6:56480467C>T	ENST00000370765.6	-	24	7905	c.7798G>A	c.(7798-7800)Gtc>Atc	p.V2600I	DST_ENST00000370769.4_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1896					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATATTTCTGACATATGACTTT	0.363																																						ENST00000370765.6																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(7798-7800)Gtc>Atc		dystonin							125.0	127.0	126.0					6																	56480467		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56480467C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.7798G>A	6.37:g.56480467C>T	ENSP00000359801:p.Val2600Ile					DST_ENST00000361203.3_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Intron	p.V2600I	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		24	7905	-	Lung NSC(77;0.103)		1896					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000370765.6	37	c.7798G>A	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.624844	0.00007	.	.	ENSG00000151914	ENST00000370765	T	0.66995	-0.24	5.61	1.85	0.25348	.	.	.	.	.	T	0.17023	0.0409	.	.	.	0.09310	N	1.0	B	0.06786	0.001	B	0.04013	0.001	T	0.12993	-1.0526	7	0.02654	T	1	.	8.8376	0.35121	0.0:0.5966:0.0995:0.3039	.	2600	Q03001-3	.	I	2600	ENSP00000359801:V2600I	ENSP00000359801:V2600I	V	-	1	0	DST	56588426	0.000000	0.05858	0.002000	0.10522	0.023000	0.10783	-0.879000	0.04188	0.068000	0.16574	-1.151000	0.01829	GTC		0.363	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		18	78	0	0	0	1	0	18	78				
SLC5A10	125206	broad.mit.edu	37	17	18880288	18880288	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr17:18880288G>A	ENST00000395645.3	+	9	986	c.968G>A	c.(967-969)cGc>cAc	p.R323H	SLC5A10_ENST00000317977.6_Missense_Mutation_p.R240H|FAM83G_ENST00000345041.4_Intron|FAM83G_ENST00000388995.6_Intron|SLC5A10_ENST00000395643.2_Missense_Mutation_p.R296H|FAM83G_ENST00000585154.2_Intron|SLC5A10_ENST00000395647.2_Missense_Mutation_p.R323H|SLC5A10_ENST00000395642.1_Missense_Mutation_p.R240H|SLC5A10_ENST00000417251.2_Missense_Mutation_p.R323H	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	323					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						ATGATCAGCCGCGCATTGTTC	0.627																																						ENST00000317977.6																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						c.(718-720)cGc>cAc		solute carrier family 5 (sodium/sugar cotransporter), member 10							89.0	77.0	81.0					17																	18880288		2203	4300	6503	SO:0001583	missense	125206				sodium ion transport|transmembrane transport	integral to membrane	transporter activity	g.chr17:18880288G>A		CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"""Solute carriers"""	23155	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 10"""				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.968G>A	17.37:g.18880288G>A	ENSP00000379007:p.Arg323His					FAM83G_ENST00000345041.4_Intron|SLC5A10_ENST00000395645.3_Missense_Mutation_p.R323H|SLC5A10_ENST00000395642.1_Missense_Mutation_p.R240H|FAM83G_ENST00000388995.6_Intron|SLC5A10_ENST00000395647.2_Missense_Mutation_p.R323H|FAM83G_ENST00000585154.2_Intron|SLC5A10_ENST00000417251.2_Missense_Mutation_p.R323H|SLC5A10_ENST00000395643.2_Missense_Mutation_p.R296H	p.R240H			A0PJK1	SC5AA_HUMAN			8	1290	+			323					A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Missense_Mutation	SNP	ENST00000395645.3	37	c.719G>A	CCDS42275.1	.	.	.	.	.	.	.	.	.	.	G	34	5.368370	0.95900	.	.	ENSG00000154025	ENST00000317977;ENST00000395647;ENST00000395642;ENST00000417251;ENST00000395645;ENST00000395643	D;D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47;-2.47	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.96904	0.8989	H	0.97390	3.995	0.80722	D	1	D;D;D;P;D	0.89917	1.0;1.0;1.0;0.926;0.978	D;D;D;P;P	0.80764	0.994;0.982;0.99;0.476;0.633	D	0.97595	1.0119	10	0.87932	D	0	.	20.023	0.97509	0.0:0.0:1.0:0.0	.	323;296;323;323;240	B4DPI0;A0PJK1-2;A0PJK1;A0PJK1-4;A0PJK1-3	.;.;SC5AA_HUMAN;.;.	H	240;323;240;323;323;296	ENSP00000324346:R240H;ENSP00000379008:R323H;ENSP00000379004:R240H;ENSP00000401875:R323H;ENSP00000379007:R323H;ENSP00000379005:R296H	ENSP00000324346:R240H	R	+	2	0	SLC5A10	18821013	1.000000	0.71417	0.970000	0.41538	0.788000	0.44548	9.668000	0.98619	2.837000	0.97791	0.655000	0.94253	CGC		0.627	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		9	33	0	0	0	1	0	9	33				
CTTNBP2	83992	broad.mit.edu	37	7	117364661	117364661	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr7:117364661G>A	ENST00000160373.3	-	19	4478	c.4387C>T	c.(4387-4389)Cgc>Tgc	p.R1463C		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1463					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GACTTCCTGCGAGGACTGGTG	0.502																																						ENST00000160373.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(4387-4389)Cgc>Tgc		cortactin binding protein 2							123.0	99.0	107.0					7																	117364661		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117364661G>A		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.4387C>T	7.37:g.117364661G>A	ENSP00000160373:p.Arg1463Cys						p.R1463C	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	19	4478	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		1463					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.4387C>T	CCDS5774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.9|23.9	4.474272|4.474272	0.84640|0.84640	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000160373|ENST00000446636	T|.	0.72051|.	-0.62|.	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	0.102610|.	0.64402|.	D|.	0.000002|.	T|T	0.82093|0.82093	0.4962|0.4962	M|M	0.83603|0.83603	2.65|2.65	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.78314|.	0.991|.	T|T	0.83253|0.83253	-0.0052|-0.0052	10|5	0.87932|.	D|.	0|.	-21.721|-21.721	18.7795|18.7795	0.91926|0.91926	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1463|.	Q8WZ74|.	CTTB2_HUMAN|.	C|L	1463|950	ENSP00000160373:R1463C|.	ENSP00000160373:R1463C|.	R|S	-|-	1|2	0|0	CTTNBP2|CTTNBP2	117151897|117151897	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.883000|0.883000	0.51084|0.51084	7.754000|7.754000	0.85163|0.85163	2.600000|2.600000	0.87896|0.87896	0.655000|0.655000	0.94253|0.94253	CGC|TCG		0.502	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		8	39	0	0	0	1	0	8	39				
CIRH1A	84916	broad.mit.edu	37	16	69177241	69177241	+	Silent	SNP	G	G	A			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr16:69177241G>A	ENST00000314423.7	+	6	864	c.687G>A	c.(685-687)gtG>gtA	p.V229V	CIRH1A_ENST00000563094.1_Silent_p.V229V|CIRH1A_ENST00000352319.4_Silent_p.V229V|CIRH1A_ENST00000569615.2_3'UTR			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	229					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		GGACGCTTGTGAAGAGCCATC	0.542																																					Melanoma(69;1156 1278 4951 8715 52012)	ENST00000563094.1																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16						c.(685-687)gtG>gtA		cirrhosis, autosomal recessive 1A (cirhin)							218.0	164.0	183.0					16																	69177241		2198	4300	6498	SO:0001819	synonymous_variant	84916					nucleolus	protein binding	g.chr16:69177241G>A	AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"""WD repeat domain containing"""	1983	protein-coding gene	gene with protein product	"""UTP4, small subunit (SSU) processome component, homolog (yeast)"""	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.687G>A	16.37:g.69177241G>A						CIRH1A_ENST00000352319.4_Silent_p.V229V|CIRH1A_ENST00000314423.7_Silent_p.V229V|CIRH1A_ENST00000569615.2_3'UTR	p.V229V			Q969X6	CIR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.125)	6	721	+			229					Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Silent	SNP	ENST00000314423.7	37	c.687G>A	CCDS10872.1																																																																																				0.542	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2	NM_032830		16	56	0	0	0	1	0	16	56				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	4	40	0	0	0	1	0	4	40				
FLG2	388698	broad.mit.edu	37	1	152326017	152326017	+	Missense_Mutation	SNP	C	C	A	rs200173482		TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr1:152326017C>A	ENST00000388718.5	-	3	4317	c.4245G>T	c.(4243-4245)agG>agT	p.R1415S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1415					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCAGTTGTCCTGGACCCTC	0.527																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(4243-4245)agG>agT		filaggrin family member 2							268.0	254.0	259.0					1																	152326017		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152326017C>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4245G>T	1.37:g.152326017C>A	ENSP00000373370:p.Arg1415Ser					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.R1415S	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4317	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1415					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.4245G>T	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	1.080	-0.667351	0.03428	.	.	ENSG00000143520	ENST00000388718	T	0.03663	3.85	3.86	-7.71	0.01254	.	.	.	.	.	T	0.00328	0.0010	N	0.08118	0	0.09310	N	1	B	0.15930	0.015	B	0.04013	0.001	T	0.47886	-0.9082	9	0.07325	T	0.83	0.4423	1.4492	0.02371	0.1718:0.1676:0.3822:0.2784	.	1415	Q5D862	FILA2_HUMAN	S	1415	ENSP00000373370:R1415S	ENSP00000373370:R1415S	R	-	3	2	FLG2	150592641	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-10.701000	0.00005	-2.959000	0.00290	-0.514000	0.04452	AGG		0.527	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		6	383	1	0	8.12818e-05	1	8.30112e-05	6	383				
PKD1	5310	broad.mit.edu	37	16	2150415	2150415	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr16:2150415C>G	ENST00000262304.4	-	27	9758	c.9550G>C	c.(9550-9552)Gtg>Ctg	p.V3184L	PKD1_ENST00000423118.1_Missense_Mutation_p.V3184L	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3184	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCGTGCCACACTCGGATCTTC	0.667																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(9550-9552)Gtg>Ctg		polycystic kidney disease 1 (autosomal dominant)							89.0	101.0	97.0					16																	2150415		2198	4299	6497	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2150415C>G	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.9550G>C	16.37:g.2150415C>G	ENSP00000262304:p.Val3184Leu					PKD1_ENST00000423118.1_Missense_Mutation_p.V3184L	p.V3184L	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			27	9758	-			3184			PLAT.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.9550G>C	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	C	6.996	0.553872	0.13374	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.62364	0.03;0.03	4.84	4.84	0.62591	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.322400	0.29987	N	0.010686	T	0.43077	0.1231	N	0.21448	0.665	0.29151	N	0.878392	B;B	0.32781	0.384;0.305	B;B	0.36030	0.137;0.216	T	0.32375	-0.9909	10	0.17369	T	0.5	.	5.14	0.14954	0.0:0.6583:0.2112:0.1304	.	3184;3184	P98161-3;P98161	.;PKD1_HUMAN	L	3184;3184;2519	ENSP00000262304:V3184L;ENSP00000399501:V3184L	ENSP00000262304:V3184L	V	-	1	0	PKD1	2090416	0.529000	0.26322	0.958000	0.39756	0.976000	0.68499	0.934000	0.28910	2.501000	0.84356	0.555000	0.69702	GTG		0.667	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			18	72	0	0	0	1	0	18	72				
ANKRD11	29123	broad.mit.edu	37	16	89348421	89348421	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr16:89348421G>A	ENST00000301030.4	-	9	4989	c.4529C>T	c.(4528-4530)cCg>cTg	p.P1510L	ANKRD11_ENST00000378330.2_Missense_Mutation_p.P1510L	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1510	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CACGCGGGGCGGGCTGTCCTT	0.637																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(4528-4530)cCg>cTg		ankyrin repeat domain 11							61.0	56.0	58.0					16																	89348421		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89348421G>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.4529C>T	16.37:g.89348421G>A	ENSP00000301030:p.Pro1510Leu					ANKRD11_ENST00000378330.2_Missense_Mutation_p.P1510L	p.P1510L	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	4989	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1510			Lys-rich.		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.4529C>T	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660863	0.47572	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.39056	1.1;1.1	4.92	3.95	0.45737	.	0.219885	0.38548	N	0.001658	T	0.40067	0.1102	L	0.56769	1.78	0.80722	D	1	B	0.22541	0.071	B	0.10450	0.005	T	0.37911	-0.9685	10	0.72032	D	0.01	.	13.0367	0.58877	0.0801:0.0:0.9199:0.0	.	1510	Q6UB99	ANR11_HUMAN	L	1510	ENSP00000301030:P1510L;ENSP00000367581:P1510L	ENSP00000301030:P1510L	P	-	2	0	ANKRD11	87875922	1.000000	0.71417	0.010000	0.14722	0.108000	0.19459	4.657000	0.61490	1.176000	0.42840	0.563000	0.77884	CCG		0.637	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		7	37	0	0	0	1	0	7	37				
ZAN	7455	broad.mit.edu	37	7	100350361	100350361	+	RNA	SNP	T	T	C	rs200387712		TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr7:100350361T>C	ENST00000348028.3	+	0	2798				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACGGAAAAACTCACCATCCCC	0.502																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							331.0	375.0	361.0					7																	100350361		1881	4106	5987			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350361T>C	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350361T>C						ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2781	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	c	5.922	0.354238	0.11182	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.61392	0.11;0.11;0.11	3.16	1.24	0.21308	.	1.200500	0.06499	N	0.736017	T	0.29028	0.0721	N	0.01874	-0.695	0.20403	N	0.999901	B;B	0.14805	0.011;0.01	B;B	0.16722	0.016;0.007	T	0.18777	-1.0326	10	0.30854	T	0.27	.	4.9933	0.14226	0.0:0.6075:0.1758:0.2167	.	878;878	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	878	ENSP00000445943:L878P;ENSP00000445091:L878P;ENSP00000444427:L878P	ENSP00000423579:L878P	L	+	2	0	ZAN	100188297	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.610000	0.05629	0.035000	0.15519	-0.124000	0.14976	CTC		0.502	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		4	113	0	0	0	1	0	4	113				
PHPT1	29085	broad.mit.edu	37	9	139748449	139748449	+	IGR	SNP	C	C	T			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr9:139748449C>T	ENST00000247665.10	+	0	890				MAMDC4_ENST00000445819.1_Silent_p.T197T|MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Silent_p.T197T	NM_014172.4	NP_054891.2	Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1						negative regulation of ATP citrate synthase activity (GO:2000984)|negative regulation of lyase activity (GO:0051350)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-histidine dephosphorylation (GO:0035971)|positive regulation of cell motility (GO:2000147)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|protein dephosphorylation (GO:0006470)|regulation of actin cytoskeleton reorganization (GO:2000249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium channel inhibitor activity (GO:0019855)|ion channel binding (GO:0044325)|phosphohistidine phosphatase activity (GO:0008969)|phosphoprotein phosphatase activity (GO:0004721)			NS(1)|large_intestine(1)|lung(1)	3	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TTCAGGTGACCTTCTCTGCCA	0.607																																						ENST00000445819.1																			0				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19						c.(589-591)acC>acT		MAM domain containing 4							107.0	102.0	103.0					9																	139748449		2203	4300	6503	SO:0001628	intergenic_variant	158056				protein transport	integral to membrane		g.chr9:139748449C>T	AF131857	CCDS7009.1, CCDS48060.1	9q34.3	2008-02-05			ENSG00000054148	ENSG00000054148	3.1.3.-		30033	protein-coding gene	gene with protein product	"""phosphohistidine phosphatase 14kDa"", "" sex-regulated protein janus-a"""	610167				11042152, 8619474	Standard	NM_014172		Approved	PHP14, HSPC141, CGI-202, DKFZp564M173, bA216L13.10	uc004cjq.4	Q9NRX4	OTTHUMG00000020950		9.37:g.139748449C>T						MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Silent_p.T197T	p.T197T			Q6UXC1	AEGP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	6	641	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	197			MAM 1.		B1AMX0|B1AMX1|Q9H0Y3	Silent	SNP	ENST00000247665.10	37	c.591C>T	CCDS7009.1	.	.	.	.	.	.	.	.	.	.	.	10.41	1.341625	0.24339	.	.	ENSG00000177943	ENST00000413647	.	.	.	4.25	1.18	0.20946	.	.	.	.	.	T	0.46034	0.1372	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27938	-1.0059	4	.	.	.	-34.2112	4.0265	0.09690	0.1736:0.5482:0.0:0.2781	.	.	.	.	F	179	.	.	L	+	1	0	MAMDC4	138868270	0.002000	0.14202	1.000000	0.80357	0.990000	0.78478	0.207000	0.17395	0.398000	0.25338	0.561000	0.74099	CTT		0.607	PHPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055150.1	NM_014172		17	124	0	0	0	1	0	17	124				
CLEC17A	388512	broad.mit.edu	37	19	14706127	14706127	+	Splice_Site	SNP	G	G	A	rs368206109		TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr19:14706127G>A	ENST00000417570.1	+	8	483	c.445G>A	c.(445-447)Gca>Aca	p.A149T	CLEC17A_ENST00000397439.2_Splice_Site_p.A132T|CLEC17A_ENST00000547437.1_Splice_Site_p.A149T	NM_001204118.1	NP_001191047.1	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	149						cell surface (GO:0009986)|integral component of membrane (GO:0016021)	fucose binding (GO:0042806)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)										ATCCCTGGCCGGTAAGTGTCC	0.498													N|||	1	0.000199681	0.0	0.0	5008	,	,		21379	0.0		0.0	False		,,,				2504	0.001					ENST00000547437.1																			0											c.e8+1		C-type lectin domain family 17, member A		G	THR/ALA,THR/ALA	0,3932		0,0,1966	238.0	225.0	229.0		445,445	-1.4	0.0	19		229	1,8307		0,1,4153	no	missense-near-splice,missense-near-splice	CLEC17A	NM_207390.3,NM_001204118.1	58,58	0,1,6119	AA,AG,GG		0.012,0.0,0.0082	benign,benign	149/307,149/379	14706127	1,12239	1966	4154	6120	SO:0001630	splice_region_variant	388512					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity	g.chr19:14706127G>A	AK127809	CCDS46002.1, CCDS46002.2, CCDS56087.1	19p13.12	2009-06-26			ENSG00000187912	ENSG00000187912		"""C-type lectin domain containing"""	34520	protein-coding gene	gene with protein product	"""prolectin"""					19419970	Standard	NM_207390		Approved	FLJ45910	uc010dzn.2	Q6ZS10		ENST00000417570.1:c.445+1G>A	19.37:g.14706127G>A						CLEC17A_ENST00000397439.2_Splice_Site_p.A132_splice|CLEC17A_ENST00000417570.1_Splice_Site_p.A149_splice	p.A149_splice	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN			8	522	+			149					A8MX68|B2RTX0|B7ZMM4	Splice_Site	SNP	ENST00000417570.1	37	c.445_splice	CCDS56087.1	.	.	.	.	.	.	.	.	.	.	-	7.176	0.588598	0.13812	0.0	1.2E-4	ENSG00000187912	ENST00000547437;ENST00000397439;ENST00000417570	T;T;T	0.62941	-0.01;-0.01;-0.01	2.59	-1.37	0.09056	.	1.161070	0.06761	N	0.781787	T	0.32466	0.0830	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.27594	0.004;0.09;0.021;0.182	B;B;B;B	0.15870	0.005;0.009;0.003;0.014	T	0.17349	-1.0372	10	0.02654	T	1	-30.974	3.1288	0.06417	0.39:0.2424:0.3676:0.0	.	149;149;149;149	Q6ZS10-2;Q6ZS10-3;Q6ZS10;F8W1T8	.;.;CL17A_HUMAN;.	T	149;132;149	ENSP00000450065:A149T;ENSP00000380581:A132T;ENSP00000393719:A149T	ENSP00000341620:A149T	A	+	1	0	CLEC17A	14567127	0.143000	0.22626	0.013000	0.15412	0.022000	0.10575	0.066000	0.14489	-0.357000	0.08175	0.492000	0.49549	GCA		0.498	CLEC17A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403400.1	NM_207390	Missense_Mutation	4	141	0	0	0	1	0	4	141				
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318																																						ENST00000402038.3																			1	Substitution - Missense(1)	p.A584T(1)	kidney(1)	endometrium(5)|kidney(2)|lung(1)|ovary(2)	10						c.(295-297)Gca>Aca		poly (ADP-ribose) glycohydrolase							235.0	183.0	198.0					10																	51093329		692	1589	2281	SO:0001583	missense	8505				carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	g.chr10:51093329C>T	AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.295G>A	10.37:g.51093329C>T	ENSP00000384408:p.Ala99Thr						p.A99T	NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN		Epithelial(53;0.213)	4	294	-			584					A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	ENST00000402038.3	37	c.295G>A		.	.	.	.	.	.	.	.	.	.	C	12.89	2.073258	0.36566	.	.	ENSG00000227345	ENST00000402038	.	.	.	3.88	2.96	0.34315	.	.	.	.	.	T	0.46678	0.1405	M	0.61703	1.905	.	.	.	B;B;P;P;P;B	0.41947	0.002;0.003;0.574;0.766;0.766;0.006	B;B;B;B;B;B	0.38616	0.006;0.006;0.191;0.179;0.277;0.01	T	0.56631	-0.7947	7	0.18710	T	0.47	-4.0352	11.9338	0.52862	0.0:0.9123:0.0:0.0877	.	502;584;135;99;124;584	Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4	.;PARG_HUMAN;.;.;.;.	T	99	.	ENSP00000384408:A99T	A	-	1	0	PARG	50763335	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.907000	0.39897	0.952000	0.37798	0.407000	0.27541	GCA		0.318	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631		3	49	0	0	0	1	0	3	49				
ABCA8	10351	broad.mit.edu	37	17	66871845	66871845	+	Missense_Mutation	SNP	G	G	A	rs182925368		TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr17:66871845G>A	ENST00000269080.2	-	34	4417	c.4280C>T	c.(4279-4281)aCg>aTg	p.T1427M	ABCA8_ENST00000430352.2_Missense_Mutation_p.T1467M|ABCA8_ENST00000586539.1_Missense_Mutation_p.T1467M	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1427	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.T1427M(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					ACCCCTTTCCGTGTTTCTAAA	0.483													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18877	0.0		0.0	False		,,,				2504	0.0					ENST00000269080.2																			1	Substitution - Missense(1)	p.T1427M(1)	urinary_tract(1)	breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(4279-4281)aCg>aTg		ATP-binding cassette, sub-family A (ABC1), member 8							77.0	61.0	66.0					17																	66871845		2203	4300	6503	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66871845G>A	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.4280C>T	17.37:g.66871845G>A	ENSP00000269080:p.Thr1427Met					ABCA8_ENST00000430352.2_Missense_Mutation_p.T1467M|ABCA8_ENST00000586539.1_Missense_Mutation_p.T1467M	p.T1427M	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN			34	4417	-	Breast(10;4.56e-13)		1427			ABC transporter 2.		A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.4280C>T	CCDS11680.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	13.57	2.275542	0.40294	.	.	ENSG00000141338	ENST00000269080;ENST00000430352	D;D	0.95482	-3.72;-3.72	4.36	3.31	0.37934	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.377447	0.22622	N	0.057690	D	0.88789	0.6532	L	0.27053	0.805	0.29885	N	0.825709	P;P;P	0.47350	0.894;0.756;0.894	B;B;B	0.35278	0.199;0.14;0.097	D	0.86836	0.2014	10	0.56958	D	0.05	.	9.7548	0.40498	0.0:0.0:0.6391:0.3609	.	1467;1467;1427	A1L3U3;C9JQE6;O94911	.;.;ABCA8_HUMAN	M	1427;1467	ENSP00000269080:T1427M;ENSP00000402814:T1467M	ENSP00000269080:T1427M	T	-	2	0	ABCA8	64383440	0.975000	0.34042	0.990000	0.47175	0.885000	0.51271	1.822000	0.39052	2.441000	0.82636	0.650000	0.86243	ACG		0.483	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		9	28	0	0	0	1	0	9	28				
PTK7	5754	broad.mit.edu	37	6	43096847	43096847	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr6:43096847C>G	ENST00000230419.4	+	2	433	c.212C>G	c.(211-213)cCt>cGt	p.P71R	PTK7_ENST00000471863.1_Missense_Mutation_p.P71R|PTK7_ENST00000352931.2_Missense_Mutation_p.P71R|PTK7_ENST00000481273.1_Missense_Mutation_p.P79R|PTK7_ENST00000345201.2_Missense_Mutation_p.P71R|PTK7_ENST00000349241.2_Missense_Mutation_p.P71R|PTK7_ENST00000476760.1_Missense_Mutation_p.P71R	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	71	Ig-like C2-type 1.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GATGGGGCCCCTGTCCAGGAC	0.682																																						ENST00000230419.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(211-213)cCt>cGt		protein tyrosine kinase 7							31.0	33.0	32.0					6																	43096847		2203	4300	6503	SO:0001583	missense	0				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43096847C>G	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.212C>G	6.37:g.43096847C>G	ENSP00000230419:p.Pro71Arg					PTK7_ENST00000471863.1_Missense_Mutation_p.P71R|PTK7_ENST00000476760.1_Missense_Mutation_p.P71R|PTK7_ENST00000352931.2_Missense_Mutation_p.P71R|PTK7_ENST00000481273.1_Missense_Mutation_p.P79R|PTK7_ENST00000345201.2_Missense_Mutation_p.P71R|PTK7_ENST00000349241.2_Missense_Mutation_p.P71R	p.P71R	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		2	433	+			71			Ig-like C2-type 1.		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	ENST00000230419.4	37	c.212C>G	CCDS4884.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.380629	0.24944	.	.	ENSG00000112655	ENST00000230419;ENST00000476760;ENST00000471863;ENST00000349241;ENST00000352931;ENST00000345201;ENST00000481273;ENST00000419972	T;T;T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29	4.84	4.84	0.62591	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.110120	0.64402	D	0.000007	T	0.63319	0.2501	L	0.52206	1.635	0.53688	D	0.999976	B;B;P;B;P;B	0.41848	0.055;0.108;0.579;0.178;0.763;0.382	B;B;B;B;P;B	0.48571	0.082;0.099;0.379;0.188;0.582;0.306	T	0.67138	-0.5746	10	0.51188	T	0.08	.	17.9521	0.89057	0.0:1.0:0.0:0.0	.	79;71;71;71;71;71	E9PFZ5;Q13308-3;Q13308-2;Q13308-4;Q13308;Q86X91	.;.;.;.;PTK7_HUMAN;.	R	71;71;71;71;71;71;79;79	ENSP00000230419:P71R;ENSP00000417607:P71R;ENSP00000419037:P71R;ENSP00000325462:P71R;ENSP00000326029:P71R;ENSP00000325992:P71R;ENSP00000418754:P79R	ENSP00000230418:P71R	P	+	2	0	PTK7	43204825	0.964000	0.33143	0.794000	0.32065	0.116000	0.19942	2.777000	0.47717	2.234000	0.73211	0.462000	0.41574	CCT		0.682	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			4	22	0	0	0	1	0	4	22				
ITGA7	3679	broad.mit.edu	37	12	56090747	56090747	+	Missense_Mutation	SNP	G	G	A	rs548594784		TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr12:56090747G>A	ENST00000555728.1	-	13	1833	c.1805C>T	c.(1804-1806)tCg>tTg	p.S602L	ITGA7_ENST00000394230.2_Missense_Mutation_p.S562L|ITGA7_ENST00000452168.2_Missense_Mutation_p.S465L|ITGA7_ENST00000394229.2_Missense_Mutation_p.S558L|ITGA7_ENST00000347027.6_Missense_Mutation_p.S552L|ITGA7_ENST00000257879.6_Missense_Mutation_p.S558L|ITGA7_ENST00000257880.7_Missense_Mutation_p.S602L|ITGA7_ENST00000553804.1_Missense_Mutation_p.S562L			Q13683	ITA7_HUMAN	integrin, alpha 7	602					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CACGGTGCCCGAGGCCTGGTG	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		18562	0.0		0.0	False		,,,				2504	0.001					ENST00000257880.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1804-1806)tCg>tTg		integrin, alpha 7							75.0	65.0	69.0					12																	56090747		2203	4300	6503	SO:0001583	missense	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56090747G>A		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.1805C>T	12.37:g.56090747G>A	ENSP00000452387:p.Ser602Leu					ITGA7_ENST00000394229.2_Missense_Mutation_p.S558L|ITGA7_ENST00000347027.6_Missense_Mutation_p.S552L|ITGA7_ENST00000257879.6_Missense_Mutation_p.S558L|ITGA7_ENST00000394230.2_Missense_Mutation_p.S562L|ITGA7_ENST00000452168.2_Missense_Mutation_p.S465L|ITGA7_ENST00000555728.1_Missense_Mutation_p.S602L|ITGA7_ENST00000553804.1_Missense_Mutation_p.S562L	p.S602L			Q13683	ITA7_HUMAN			13	2024	-			602					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	37	c.1805C>T		.	.	.	.	.	.	.	.	.	.	G	15.39	2.818283	0.50633	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000555728	T;T;T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83	4.41	4.41	0.53225	Integrin alpha-2 (1);	0.446289	0.20651	N	0.088201	T	0.59459	0.2195	M	0.65498	2.005	0.09310	N	1	D;D;D;D	0.58268	0.976;0.957;0.976;0.982	P;P;P;P	0.54140	0.743;0.608;0.674;0.73	T	0.56673	-0.7940	10	0.72032	D	0.01	.	14.8887	0.70590	0.0:0.0:1.0:0.0	.	465;602;562;621	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	L	562;558;552;465;602;562;558;602	ENSP00000452120:S562L;ENSP00000257879:S558L;ENSP00000343009:S552L;ENSP00000393844:S465L;ENSP00000257880:S602L;ENSP00000377777:S562L;ENSP00000377776:S558L;ENSP00000452387:S602L	ENSP00000257879:S558L	S	-	2	0	ITGA7	54377014	0.986000	0.35501	0.791000	0.31998	0.500000	0.33767	3.476000	0.53143	2.180000	0.69256	0.561000	0.74099	TCG		0.602	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		7	18	0	0	0	1	0	7	18				
FGG	2266	broad.mit.edu	37	4	155528019	155528019	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr4:155528019C>T	ENST00000336098.3	-	8	1005	c.967G>A	c.(967-969)Gat>Aat	p.D323N	FGG_ENST00000407946.1_Missense_Mutation_p.D331N|FGG_ENST00000404648.3_Missense_Mutation_p.D323N|FGG_ENST00000405164.1_Missense_Mutation_p.D331N	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	323	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CTAGGATCATCGCCAAAATCA	0.468																																						ENST00000404648.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(967-969)Gat>Aat		fibrinogen gamma chain	Sucralfate(DB00364)						245.0	216.0	226.0					4																	155528019		2203	4300	6503	SO:0001583	missense	2266				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155528019C>T		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.967G>A	4.37:g.155528019C>T	ENSP00000336829:p.Asp323Asn					FGG_ENST00000407946.1_Missense_Mutation_p.D331N|FGG_ENST00000336098.3_Missense_Mutation_p.D323N|FGG_ENST00000405164.1_Missense_Mutation_p.D331N	p.D323N	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN			8	1206	-	all_hematologic(180;0.215)	Renal(120;0.0458)	323			Fibrinogen C-terminal.		A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Missense_Mutation	SNP	ENST00000336098.3	37	c.967G>A	CCDS3788.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075013	0.76415	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946	D;D;D;D	0.97430	-4.38;-4.38;-4.38;-4.38	5.79	5.79	0.91817	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.135793	0.64402	D	0.000003	D	0.98469	0.9490	M	0.80183	2.485	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.76071	0.967;0.987;0.987;0.987;0.978	D	0.98387	1.0561	10	0.46703	T	0.11	.	20.0275	0.97527	0.0:1.0:0.0:0.0	.	220;331;323;331;323	D3DP16;C9JC84;P02679;C9JEU5;P02679-2	.;.;FIBG_HUMAN;.;.	N	323;331;323;331	ENSP00000384860:D323N;ENSP00000384101:D331N;ENSP00000336829:D323N;ENSP00000384552:D331N	ENSP00000336829:D323N	D	-	1	0	FGG	155747469	1.000000	0.71417	0.984000	0.44739	0.495000	0.33615	4.731000	0.62022	2.727000	0.93392	0.650000	0.86243	GAT		0.468	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870		16	82	0	0	0	1	0	16	82				
CTNNAL1	8727	broad.mit.edu	37	9	111746717	111746717	+	Splice_Site	SNP	C	C	G			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr9:111746717C>G	ENST00000325551.4	-	5	726		c.e5-1		CTNNAL1_ENST00000325580.6_Splice_Site|CTNNAL1_ENST00000374595.4_Splice_Site	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1						cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		CTTTCAAATCCTAAATATGAA	0.338																																						ENST00000374595.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25						c.e5-1		catenin (cadherin-associated protein), alpha-like 1							111.0	107.0	108.0					9																	111746717		2203	4300	6503	SO:0001630	splice_region_variant	8727				cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111746717C>G	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.640-1G>C	9.37:g.111746717C>G						CTNNAL1_ENST00000325580.6_Splice_Site|CTNNAL1_ENST00000325551.4_Splice_Site				Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	5	719	-								B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Splice_Site	SNP	ENST00000325551.4	37		CCDS6775.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.609466	0.87258	.	.	ENSG00000119326	ENST00000374595;ENST00000325551;ENST00000325580	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5058	0.87745	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CTNNAL1	110786538	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	7.754000	0.85163	2.731000	0.93534	0.655000	0.94253	.		0.338	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798	Intron	9	41	0	0	0	1	0	9	41				
PLCZ1	89869	broad.mit.edu	37	12	18836184	18836184	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr12:18836184A>G	ENST00000538330.1	-	11	1543	c.1162T>C	c.(1162-1164)Tac>Cac	p.Y388H	PLCZ1_ENST00000435379.1_Missense_Mutation_p.Y411H|PLCZ1_ENST00000447925.2_Missense_Mutation_p.Y604H|PLCZ1_ENST00000539875.1_Missense_Mutation_p.Y413H|PLCZ1_ENST00000541695.1_3'UTR|PLCZ1_ENST00000266505.7_Missense_Mutation_p.Y606H|PLCZ1_ENST00000534932.1_Missense_Mutation_p.Y87H					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TATCTGACGTACCAAACATAA	0.338																																						ENST00000447925.2																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.(1810-1812)Tac>Cac		phospholipase C, zeta 1							121.0	108.0	112.0					12																	18836184		2203	4300	6503	SO:0001583	missense	89869				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr12:18836184A>G	AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"""EF-hand domain containing"""	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000538330.1:c.1162T>C	12.37:g.18836184A>G	ENSP00000445880:p.Tyr388His					PLCZ1_ENST00000541695.1_3'UTR|PLCZ1_ENST00000538330.1_Missense_Mutation_p.Y388H|PLCZ1_ENST00000534932.1_Missense_Mutation_p.Y87H|PLCZ1_ENST00000539875.1_Missense_Mutation_p.Y413H|PLCZ1_ENST00000435379.1_Missense_Mutation_p.Y411H|PLCZ1_ENST00000266505.7_Missense_Mutation_p.Y606H	p.Y604H	NM_033123.2	NP_149114.2	Q86YW0	PLCZ1_HUMAN			15	2079	-	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)		606						Missense_Mutation	SNP	ENST00000538330.1	37	c.1810T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.81|13.81	2.347160|2.347160	0.41599|0.41599	.|.	.|.	ENSG00000139151|ENSG00000139151	ENST00000536023|ENST00000534932;ENST00000538330;ENST00000266505;ENST00000447925;ENST00000435379;ENST00000539875	.|T;T;T;T;T;T	.|0.15256	.|2.44;2.44;2.44;2.44;2.44;2.44	5.34|5.34	4.18|4.18	0.49190|0.49190	.|C2 calcium/lipid-binding domain, CaLB (1);	.|0.144783	.|0.47852	.|D	.|0.000201	T|T	0.37865|0.37865	0.1019|0.1019	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.998	T|T	0.13388|0.13388	-1.0511|-1.0511	5|10	.|0.87932	.|D	.|0	.|.	9.2476|9.2476	0.37536|0.37536	0.8178:0.1822:0.0:0.0|0.8178:0.1822:0.0:0.0	.|.	.|606;388	.|Q86YW0;Q8N7S5	.|PLCZ1_HUMAN;.	A|H	98|87;388;606;604;411;413	.|ENSP00000438826:Y87H;ENSP00000445880:Y388H;ENSP00000266505:Y606H;ENSP00000402358:Y604H;ENSP00000400504:Y411H;ENSP00000445026:Y413H	.|ENSP00000266505:Y606H	V|Y	-|-	2|1	0|0	PLCZ1|PLCZ1	18727451|18727451	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.205000|0.205000	0.24178|0.24178	3.916000|3.916000	0.56416|0.56416	1.024000|1.024000	0.39682|0.39682	-0.316000|-0.316000	0.08728|0.08728	GTA|TAC		0.338	PLCZ1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000401666.3	NM_033123		3	56	0	0	0	1	0	3	56				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	33	0	0	0	1	0	3	33				
IQCF2	389123	broad.mit.edu	37	3	51897199	51897199	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr3:51897199T>C	ENST00000333127.3	+	3	337	c.308T>C	c.(307-309)gTg>gCg	p.V103A	IQCF2_ENST00000429548.1_3'UTR	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	103	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.									endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GAGAGGGCAGTGATCAAGCTC	0.582																																						ENST00000333127.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(307-309)gTg>gCg		IQ motif containing F2							132.0	128.0	129.0					3																	51897199		2203	4300	6503	SO:0001583	missense	389123							g.chr3:51897199T>C	AK128883	CCDS2835.1	3p21.31	2008-02-05			ENSG00000184345	ENSG00000184345			31815	protein-coding gene	gene with protein product							Standard	NM_203424		Approved		uc003dbt.1	Q8IXL9	OTTHUMG00000156914	ENST00000333127.3:c.308T>C	3.37:g.51897199T>C	ENSP00000329904:p.Val103Ala					IQCF2_ENST00000429548.1_3'UTR	p.V103A	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	3	337	+			103			IQ 2.			Missense_Mutation	SNP	ENST00000333127.3	37	c.308T>C	CCDS2835.1	.	.	.	.	.	.	.	.	.	.	T	14.07	2.424931	0.43020	.	.	ENSG00000184345	ENST00000333127	T	0.13538	2.58	4.95	4.95	0.65309	.	0.000000	0.49305	D	0.000146	T	0.16385	0.0394	N	0.21194	0.64	0.26376	N	0.976808	D	0.57257	0.979	D	0.64410	0.925	T	0.07121	-1.0789	10	0.02654	T	1	-24.183	11.1833	0.48642	0.0:0.0:0.0:1.0	.	103	Q8IXL9	IQCF2_HUMAN	A	103	ENSP00000329904:V103A	ENSP00000329904:V103A	V	+	2	0	IQCF2	51872239	0.970000	0.33590	0.977000	0.42913	0.970000	0.65996	1.316000	0.33620	2.198000	0.70561	0.459000	0.35465	GTG		0.582	IQCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346594.1	NM_203424		20	61	0	0	0	1	0	20	61				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		3	51	0	0	0	1	0	3	51				
CALCR	799	broad.mit.edu	37	7	93055795	93055795	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr7:93055795G>A	ENST00000394441.1	-	13	1613	c.1298C>T	c.(1297-1299)gCg>gTg	p.A433V	CALCR_ENST00000359558.2_Missense_Mutation_p.A467V|CALCR_ENST00000426151.1_Missense_Mutation_p.A433V|CALCR_ENST00000421592.1_Missense_Mutation_p.A449V|CALCR_ENST00000360249.4_Missense_Mutation_p.A449V	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	467					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	GCCAGCCTCCGCAGCAGCGGC	0.582																																						ENST00000359558.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45						c.(1399-1401)gCg>gTg		calcitonin receptor	Salmon Calcitonin(DB00017)						90.0	93.0	92.0					7																	93055795		2203	4300	6503	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	g.chr7:93055795G>A	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.1298C>T	7.37:g.93055795G>A	ENSP00000377959:p.Ala433Val					CALCR_ENST00000394441.1_Missense_Mutation_p.A433V|CALCR_ENST00000426151.1_Missense_Mutation_p.A433V|CALCR_ENST00000421592.1_Missense_Mutation_p.A449V|CALCR_ENST00000360249.4_Missense_Mutation_p.A449V	p.A467V	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		16	1699	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		449					A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.1400C>T	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.323108	0.41096	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000394441;ENST00000426151	T;T;T;T;T	0.51325	0.71;0.73;0.73;0.84;0.84	5.11	4.23	0.50019	.	.	.	.	.	T	0.41236	0.1150	L	0.28556	0.865	0.09310	N	1	D;P	0.61697	0.99;0.923	P;B	0.50405	0.64;0.122	T	0.11591	-1.0581	9	0.16896	T	0.51	.	9.7264	0.40335	0.0935:0.0:0.9065:0.0	.	467;433	F5H605;A4D1G6	.;.	V	467;449;449;433;433	ENSP00000352561:A467V;ENSP00000353385:A449V;ENSP00000399552:A449V;ENSP00000377959:A433V;ENSP00000389295:A433V	ENSP00000352561:A467V	A	-	2	0	CALCR	92893731	0.861000	0.29849	0.034000	0.17996	0.005000	0.04900	1.745000	0.38278	1.537000	0.49254	-0.145000	0.13849	GCG		0.582	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		30	99	0	0	0	1	0	30	99				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			5	31	0	0	0	1	0	5	31				
SSB	6741	broad.mit.edu	37	2	170657516	170657516	+	Missense_Mutation	SNP	A	A	C			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr2:170657516A>C	ENST00000409333.1	+	2	293	c.46A>C	c.(46-48)Aaa>Caa	p.K16Q	SSB_ENST00000260956.4_Missense_Mutation_p.K16Q			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	16	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				histone mRNA metabolic process (GO:0008334)|tRNA modification (GO:0006400)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CCTGGAGGCCAAAATCTGTCA	0.333																																						ENST00000409333.1																			0				endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(46-48)Aaa>Caa		Sjogren syndrome antigen B (autoantigen La)							78.0	86.0	83.0					2																	170657516		2203	4300	6503	SO:0001583	missense	6741				histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding	g.chr2:170657516A>C		CCDS2237.1	2q31.1	2014-02-14		2005-06-16	ENSG00000138385	ENSG00000138385		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	11316	protein-coding gene	gene with protein product	"""La ribonucleoprotein domain family, member 3"""	109090					Standard	NM_003142		Approved	LARP3, La, La/SSB	uc002ufk.3	P05455	OTTHUMG00000132212	ENST00000409333.1:c.46A>C	2.37:g.170657516A>C	ENSP00000386636:p.Lys16Gln					SSB_ENST00000260956.4_Missense_Mutation_p.K16Q	p.K16Q			P05455	LA_HUMAN			2	293	+			16			HTH La-type RNA-binding.		Q15367|Q53XJ4	Missense_Mutation	SNP	ENST00000409333.1	37	c.46A>C	CCDS2237.1	.	.	.	.	.	.	.	.	.	.	A	19.24	3.788583	0.70337	.	.	ENSG00000138385	ENST00000422006;ENST00000260956;ENST00000409005;ENST00000409333	T;T;T	0.45276	0.9;0.9;0.9	5.32	5.32	0.75619	Winged helix-turn-helix transcription repressor DNA-binding (1);RNA-binding protein Lupus La (2);	0.000000	0.85682	D	0.000000	T	0.44008	0.1273	L	0.61036	1.89	0.80722	D	1	P;P	0.51933	0.949;0.674	B;B	0.41917	0.37;0.338	T	0.51164	-0.8740	10	0.59425	D	0.04	-29.5104	15.5911	0.76530	1.0:0.0:0.0:0.0	.	16;16	E9PFH8;P05455	.;LA_HUMAN	Q	16	ENSP00000397029:K16Q;ENSP00000260956:K16Q;ENSP00000386636:K16Q	ENSP00000260956:K16Q	K	+	1	0	SSB	170365762	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.727000	0.74764	2.140000	0.66376	0.460000	0.39030	AAA		0.333	SSB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333316.1	NM_003142		3	62	0	0	0	1	0	3	62				
PCDHGB4	8641	broad.mit.edu	37	5	140769422	140769422	+	Silent	SNP	G	G	A			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr5:140769422G>A	ENST00000519479.1	+	1	1971	c.1971G>A	c.(1969-1971)acG>acA	p.T657T	PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_5'Flank	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	657	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACTGCCACGTTGCACCTGG	0.662																																						ENST00000519479.1																			0				endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37						c.(1969-1971)acG>acA									77.0	83.0	81.0					5																	140769422		2153	4250	6403	SO:0001819	synonymous_variant	0							g.chr5:140769422G>A	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1971G>A	5.37:g.140769422G>A						PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron	p.T657T	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1971	+								O15099|Q2M267|Q9UN64	Silent	SNP	ENST00000519479.1	37	c.1971G>A	CCDS54928.1																																																																																				0.662	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		15	52	0	0	0	1	0	15	52				
OR2M7	391196	broad.mit.edu	37	1	248487559	248487559	+	Silent	SNP	A	A	G			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr1:248487559A>G	ENST00000317965.2	-	1	340	c.312T>C	c.(310-312)taT>taC	p.Y104Y		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCAATGATATATAGAAGAAAA	0.458																																						ENST00000317965.2																			0				breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42						c.(310-312)taT>taC		olfactory receptor, family 2, subfamily M, member 7							188.0	197.0	194.0					1																	248487559		2203	4300	6503	SO:0001819	synonymous_variant	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248487559A>G	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"""GPCR / Class A : Olfactory receptors"""	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.312T>C	1.37:g.248487559A>G							p.Y104Y	NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	340	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		104					B2RNL0|Q6IEX6	Silent	SNP	ENST00000317965.2	37	c.312T>C	CCDS31111.1																																																																																				0.458	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		5	203	0	0	0	1	0	5	203				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382578.1_Silent_p.S281S			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000348295.3_Silent_p.S343S	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		3	50	0	0	0	1	0	3	50				
TLE3	7090	broad.mit.edu	37	15	70347600	70347600	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr15:70347600G>T	ENST00000558939.1	-	15	2752	c.1375C>A	c.(1375-1377)Cag>Aag	p.Q459K	TLE3_ENST00000539550.1_Missense_Mutation_p.Q386K|TLE3_ENST00000560939.1_Missense_Mutation_p.Q461K|TLE3_ENST00000559929.1_Missense_Mutation_p.Q469K|TLE3_ENST00000558201.1_Missense_Mutation_p.Q465K|TLE3_ENST00000557907.1_Missense_Mutation_p.Q451K|TLE3_ENST00000317509.8_Missense_Mutation_p.Q447K|TLE3_ENST00000440567.3_Missense_Mutation_p.Q449K|TLE3_ENST00000442299.2_Missense_Mutation_p.Q451K|TLE3_ENST00000559191.1_Missense_Mutation_p.Q40K|TLE3_ENST00000557997.1_Missense_Mutation_p.Q451K|TLE3_ENST00000451782.2_Missense_Mutation_p.Q456K|TLE3_ENST00000559048.1_Missense_Mutation_p.Q459K|TLE3_ENST00000560589.1_Missense_Mutation_p.Q403K|TLE3_ENST00000558379.1_Missense_Mutation_p.Q454K	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	459					Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGCACGGGCTGCATCTGCCCA	0.647																																						ENST00000558939.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1375-1377)Cag>Aag		transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)							55.0	66.0	62.0					15																	70347600		2198	4297	6495	SO:0001583	missense	7090				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding	g.chr15:70347600G>T	M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"""WD repeat domain containing"""	11839	protein-coding gene	gene with protein product		600190	"""transducin-like enhancer of split 3, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.1375C>A	15.37:g.70347600G>T	ENSP00000452871:p.Gln459Lys					TLE3_ENST00000557997.1_Missense_Mutation_p.Q451K|TLE3_ENST00000560589.1_Missense_Mutation_p.Q403K|TLE3_ENST00000451782.2_Missense_Mutation_p.Q456K|TLE3_ENST00000559191.1_Missense_Mutation_p.Q40K|TLE3_ENST00000560939.1_Missense_Mutation_p.Q461K|TLE3_ENST00000559929.1_Missense_Mutation_p.Q469K|TLE3_ENST00000558201.1_Missense_Mutation_p.Q465K|TLE3_ENST00000440567.3_Missense_Mutation_p.Q449K|TLE3_ENST00000558379.1_Missense_Mutation_p.Q454K|TLE3_ENST00000317509.8_Missense_Mutation_p.Q447K|TLE3_ENST00000559048.1_Missense_Mutation_p.Q459K|TLE3_ENST00000442299.2_Missense_Mutation_p.Q451K|TLE3_ENST00000557907.1_Missense_Mutation_p.Q451K|TLE3_ENST00000539550.1_Missense_Mutation_p.Q386K	p.Q459K			Q04726	TLE3_HUMAN			15	2752	-			459					B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Missense_Mutation	SNP	ENST00000558939.1	37	c.1375C>A	CCDS45293.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108062	0.77096	.	.	ENSG00000140332	ENST00000442299;ENST00000451782;ENST00000317509;ENST00000440567;ENST00000539550;ENST00000542329	T;T;T;T	0.10960	2.82;2.82;2.82;2.82	4.54	4.54	0.55810	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.22666	0.0547	M	0.87682	2.9	0.58432	D	0.999998	B;B;P;B;P;B;B;B	0.48694	0.347;0.387;0.914;0.387;0.654;0.387;0.347;0.369	B;B;B;B;B;B;B;B	0.42851	0.184;0.121;0.293;0.099;0.4;0.121;0.184;0.176	T	0.26815	-1.0092	10	0.87932	D	0	-0.0042	16.2284	0.82315	0.0:0.0:1.0:0.0	.	449;456;451;454;447;459;459;386	F8W964;E9PD64;Q04726-3;Q6PI57;Q04726-2;Q04726;Q04726-4;F5H7D6	.;.;.;.;.;TLE3_HUMAN;.;.	K	451;456;459;449;386;126	ENSP00000390007:Q451K;ENSP00000394717:Q456K;ENSP00000415057:Q449K;ENSP00000442594:Q386K	ENSP00000319233:Q459K	Q	-	1	0	TLE3	68134654	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.530000	0.98051	2.352000	0.79861	0.462000	0.41574	CAG		0.647	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1	NM_005078		14	39	1	0	7.93312e-07	1	8.462e-07	14	39				
HGS	9146	broad.mit.edu	37	17	79667788	79667788	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr17:79667788A>G	ENST00000329138.4	+	20	2215	c.2080A>G	c.(2080-2082)Atg>Gtg	p.M694V	SLC25A10_ENST00000571730.1_5'Flank|SLC25A10_ENST00000541223.1_5'Flank|RP13-1032I1.7_ENST00000575312.1_RNA|MRPL12_ENST00000333676.3_5'Flank	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	694	Gln-rich.|Interaction with NF2.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			GTCCAGCACCATGGGCTACAT	0.657																																						ENST00000329138.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(2080-2082)Atg>Gtg		hepatocyte growth factor-regulated tyrosine kinase substrate							39.0	37.0	38.0					17																	79667788		2203	4299	6502	SO:0001583	missense	9146				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding	g.chr17:79667788A>G	D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"""Zinc fingers, FYVE domain containing"""	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.2080A>G	17.37:g.79667788A>G	ENSP00000331201:p.Met694Val						p.M694V	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		20	2215	+	all_neural(118;0.0878)|all_lung(278;0.23)		694			Gln-rich.|Interaction with NF2.		Q9NR36	Missense_Mutation	SNP	ENST00000329138.4	37	c.2080A>G	CCDS11784.1	.	.	.	.	.	.	.	.	.	.	A	7.223	0.597672	0.13875	.	.	ENSG00000185359	ENST00000329138;ENST00000442335	T	0.37915	1.17	4.6	2.38	0.29361	.	1.659970	0.03209	N	0.175988	T	0.20941	0.0504	N	0.08118	0	0.24182	N	0.995584	B	0.02656	0.0	B	0.01281	0.0	T	0.20806	-1.0264	10	0.17369	T	0.5	-13.1233	7.7466	0.28873	0.6574:0.0:0.3426:0.0	.	694	O14964	HGS_HUMAN	V	694;608	ENSP00000331201:M694V	ENSP00000331201:M694V	M	+	1	0	HGS	77278193	0.756000	0.28383	0.619000	0.29118	0.749000	0.42624	1.625000	0.37029	0.288000	0.22398	0.459000	0.35465	ATG		0.657	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1	NM_004712		8	25	0	0	0	1	0	8	25				
KIAA1462	57608	broad.mit.edu	37	10	30315419	30315419	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr10:30315419C>G	ENST00000375377.1	-	3	3759	c.3658G>C	c.(3658-3660)Gta>Cta	p.V1220L		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1220					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GTTCTTTCTACAAAATGGAAT	0.493																																						ENST00000375377.1																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(3658-3660)Gta>Cta		KIAA1462							125.0	118.0	120.0					10																	30315419		1851	4107	5958	SO:0001583	missense	57608							g.chr10:30315419C>G	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.3658G>C	10.37:g.30315419C>G	ENSP00000364526:p.Val1220Leu						p.V1220L	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			3	3759	-			1220					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.3658G>C	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.413995	0.25465	.	.	ENSG00000165757	ENST00000375377	T	0.12569	2.67	5.17	-5.24	0.02789	.	0.923483	0.09373	N	0.811071	T	0.09158	0.0226	L	0.34521	1.04	0.18873	N	0.999986	B	0.19331	0.035	B	0.16289	0.015	T	0.37103	-0.9720	10	0.33940	T	0.23	-1.9789	10.2855	0.43564	0.0:0.5886:0.2532:0.1582	.	1220	Q9P266	K1462_HUMAN	L	1220	ENSP00000364526:V1220L	ENSP00000364526:V1220L	V	-	1	0	KIAA1462	30355425	0.000000	0.05858	0.001000	0.08648	0.821000	0.46438	-0.661000	0.05311	-0.531000	0.06340	-0.345000	0.07892	GTA		0.493	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		3	90	0	0	0	1	0	3	90				
KRTAP10-4	386672	broad.mit.edu	37	21	45994549	45994549	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr21:45994549C>A	ENST00000400374.3	+	1	944	c.914C>A	c.(913-915)cCa>cAa	p.P305Q	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_5'Flank	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	305	36 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						AGCTGCCAGCCAGCTTGCTGC	0.627																																						ENST00000400374.3																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						c.(913-915)cCa>cAa		keratin associated protein 10-4							117.0	124.0	122.0					21																	45994549		2203	4300	6503	SO:0001583	missense	386672					keratin filament		g.chr21:45994549C>A	AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"""Keratin associated proteins"""	20521	protein-coding gene	gene with protein product			"""keratin associated protein 18-4"""	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.914C>A	21.37:g.45994549C>A	ENSP00000383225:p.Pro305Gln					TSPEAR_ENST00000323084.4_Intron	p.P305Q	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN			1	944	+			305			36 X 5 AA repeats of C-C-X(3).		Q08AS0	Missense_Mutation	SNP	ENST00000400374.3	37	c.914C>A	CCDS42957.1	.	.	.	.	.	.	.	.	.	.	c	11.18	1.563759	0.27915	.	.	ENSG00000215454	ENST00000400374	T	0.02158	4.42	3.07	3.07	0.35406	.	.	.	.	.	T	0.13072	0.0317	M	0.91612	3.225	0.24556	N	0.994	D	0.76494	0.999	D	0.69824	0.966	T	0.05419	-1.0886	9	0.54805	T	0.06	.	6.3991	0.21628	0.0:0.854:0.0:0.1459	.	305	P60372	KR104_HUMAN	Q	305	ENSP00000383225:P305Q	ENSP00000383225:P305Q	P	+	2	0	KRTAP10-4	44818977	0.086000	0.21541	0.106000	0.21319	0.667000	0.39255	1.163000	0.31798	1.390000	0.46547	0.603000	0.83216	CCA		0.627	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128045.1	NM_198687		4	156	1	0	0.00909568	1	0.00909568	4	156				
PRAMEF10	343071	broad.mit.edu	37	1	12954463	12954463	+	Missense_Mutation	SNP	T	T	G			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr1:12954463T>G	ENST00000235347.4	-	3	899	c.820A>C	c.(820-822)Ata>Cta	p.I274L		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	274					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATCTTTTTTATATAAAGCATC	0.468																																						ENST00000235347.4																			0				NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(820-822)Ata>Cta		PRAME family member 10							88.0	55.0	64.0					1																	12954463		1137	2907	4044	SO:0001583	missense	343071							g.chr1:12954463T>G	AL049682	CCDS41255.1	1p36.21	2013-01-17			ENSG00000187545	ENSG00000187545		"""-"""	27997	protein-coding gene	gene with protein product							Standard	NM_001039361		Approved		uc001auo.3	O60809	OTTHUMG00000001981	ENST00000235347.4:c.820A>C	1.37:g.12954463T>G	ENSP00000235347:p.Ile274Leu						p.I274L	NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	899	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	274					Q2M1V2	Missense_Mutation	SNP	ENST00000235347.4	37	c.820A>C	CCDS41255.1	.	.	.	.	.	.	.	.	.	.	.	0.015	-1.553363	0.00918	.	.	ENSG00000187545	ENST00000235347	T	0.00575	6.46	1.57	-1.93	0.07594	.	0.921830	0.09092	N	0.849765	T	0.00356	0.0011	N	0.21617	0.685	0.09310	N	1	P	0.44281	0.831	B	0.38880	0.284	T	0.34153	-0.9840	10	0.02654	T	1	.	4.2185	0.10545	0.5544:0.0:0.0:0.4455	.	274	O60809	PRA10_HUMAN	L	274	ENSP00000235347:I274L	ENSP00000235347:I274L	I	-	1	0	PRAMEF10	12877050	0.000000	0.05858	0.000000	0.03702	0.147000	0.21601	-0.686000	0.05161	-0.453000	0.07076	0.163000	0.16589	ATA		0.468	PRAMEF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005512.2	XM_496342		30	71	0	0	0	1	0	30	71				
MCOLN3	55283	broad.mit.edu	37	1	85491926	85491934	+	In_Frame_Del	DEL	CAAAGGCAT	CAAAGGCAT	-	rs147897040		TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr1:85491926_85491934delCAAAGGCAT	ENST00000370589.2	-	8	918_926	c.866_874delATGCCTTTG	c.(865-876)gatgcctttgtc>gtc	p.DAF289del	MCOLN3_ENST00000474447.1_5'Flank|WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000370587.1_In_Frame_Del_p.DAF289del|MCOLN3_ENST00000341115.4_In_Frame_Del_p.DAF233del	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	289					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		GTCAGAATGACAAAGGCATCAAAGATCAT	0.383																																						ENST00000370587.1																			0				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34						c.(865-876)gtc>g		mucolipin 3																																				SO:0001651	inframe_deletion	55283					integral to membrane	ion channel activity	g.chr1:85491926_85491934delCAAAGGCAT	AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.866_874delATGCCTTTG	1.37:g.85491926_85491934delCAAAGGCAT	ENSP00000359621:p.Asp289_Phe291del					WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_In_Frame_Del_p.DAFV233del|MCOLN3_ENST00000370589.2_In_Frame_Del_p.DAFV289del	p.DAFV289del			Q8TDD5	MCLN3_HUMAN		all cancers(265;0.00957)|Epithelial(280;0.0254)	9	1242_1250	-			289					Q5T4H5|Q5T4H6|Q9NV09	In_Frame_Del	DEL	ENST00000370589.2	37	c.866_874delATGCCTTTG	CCDS701.1																																																																																				0.383	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298		15	148						15	148	---	---	---	---
EBLN2	55096	broad.mit.edu	37	3	73111481	73111482	+	Frame_Shift_Ins	INS	-	-	A	rs3832186|rs201649088	byFrequency	TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr3:73111481_73111482insA	ENST00000533473.1	+	1	672_673	c.249_250insA	c.(250-252)agafs	p.R84fs	PPP4R2_ENST00000394284.3_Intron|PPP4R2_ENST00000356692.5_Intron|PPP4R2_ENST00000295862.9_Intron	NM_018029.3	NP_060499.3	Q6P2I7	EBLN2_HUMAN	endogenous Bornavirus-like nucleoprotein 2	84										endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						CTGGGAAAAACAGACAGTATCC	0.48													A|A|AA|insertion	1036	0.206869	0.1165	0.0908	5008	,	,		18256	0.3542		0.1203	False		,,,				2504	0.3487					ENST00000533473.1																			0				endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						c.(247-252)aagacafs		endogenous Bornavirus-like nucleoprotein 2			,	400,3336		31,338,1499					,	0.5	0.0		dbSNP_107	34	874,7042		44,786,3128	no	intron,frameshift	EBLN2,PPP4R2	NM_174907.2,NM_018029.3	,	75,1124,4627	A1A1,A1R,RR		11.0409,10.7066,10.9337	,	,		1274,10378				SO:0001589	frameshift_variant	55096						protein binding	g.chr3:73111481_73111482insA		CCDS54608.1	3p13	2011-06-03			ENSG00000255423	ENSG00000255423			25493	protein-coding gene	gene with protein product	"""endogenous Borna-like N element 2"""	613250				20054395, 20686665	Standard	NM_018029		Approved		uc003dpj.3	Q6P2I7	OTTHUMG00000165897	ENST00000533473.1:c.250dupA	3.37:g.73111482_73111482dupA	ENSP00000432104:p.Arg84fs					PPP4R2_ENST00000295862.9_Intron|PPP4R2_ENST00000394284.3_Intron|PPP4R2_ENST00000356692.5_Intron	p.T84fs	NM_018029.3	NP_060499.3	Q6P2I7	EBLN2_HUMAN			1	672_673	+			84					Q8WWH3|Q9NW89	Frame_Shift_Ins	INS	ENST00000533473.1	37	c.249_250insA	CCDS54608.1																																																																																				0.480	EBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386932.1	NM_018029		6	12						6	12	---	---	---	---
PMS2CL	441194	broad.mit.edu	37	7	6775132	6775133	+	RNA	INS	-	-	T	rs72390141|rs71539975		TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr7:6775132_6775133insT	ENST00000486256.1	+	0	833					NR_002217.1		Q68D20	PMS2L_HUMAN	PMS2 C-terminal like pseudogene																		GGTCATGTAAGTTTTTTTTTTT	0.401																																						ENST00000486256.1																			0																																																			0							g.chr7:6775132_6775133insT	BC041364		7p22.1	2010-10-26			ENSG00000187953	ENSG00000187953			30061	pseudogene	pseudogene	"""postmeiotic segregation increased 2 pseudogene 13"""					15256438, 17253626	Standard	NR_002217		Approved	PMS2P13	uc011jxb.1	Q68D20	OTTHUMG00000151857		7.37:g.6775143_6775143dupT								NR_002217.1						0	833	+								B4DK88|Q764P1	RNA	INS	ENST00000486256.1	37																																																																																						0.401	PMS2CL-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000324193.1	NR_002217		4	6						4	6	---	---	---	---
PPIA	5478	broad.mit.edu	37	7	44839402	44839402	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr7:44839402delC	ENST00000468812.1	+	4	336	c.291delC	c.(289-291)atcfs	p.I97fs	PPIA_ENST00000355968.6_Frame_Shift_Del_p.I37fs|PPIA_ENST00000480603.1_3'UTR|PPIA_ENST00000451562.1_Frame_Shift_Del_p.I97fs|PPIA_ENST00000489459.1_Frame_Shift_Del_p.I37fs	NM_021130.3	NP_066953.1	P62937	PPIA_HUMAN	peptidylprolyl isomerase A (cyclophilin A)	97	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				blood coagulation (GO:0007596)|entry into host cell (GO:0030260)|establishment of integrated proviral latency (GO:0075713)|leukocyte migration (GO:0050900)|lipid particle organization (GO:0034389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of protein secretion (GO:0050714)|positive regulation of viral genome replication (GO:0045070)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of viral genome replication (GO:0045069)|RNA-dependent DNA replication (GO:0006278)|uncoating of virus (GO:0019061)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral release from host cell (GO:0019076)|virion assembly (GO:0019068)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	peptide binding (GO:0042277)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)|virion binding (GO:0046790)			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Cyclosporine(DB00091)|L-Proline(DB00172)	GTCCTGGCATCTTGTCCATGG	0.483																																					Pancreas(95;605 727 734 1731 12572 23104 24406 38694 39103 44805)	ENST00000468812.1																			0				breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4						c.(289-291)atfs		peptidylprolyl isomerase A (cyclophilin A)	Cyclosporine(DB00091)|L-Proline(DB00172)						81.0	78.0	79.0					7																	44839402		2203	4296	6499	SO:0001589	frameshift_variant	5478				entry into host cell|leukocyte migration|platelet activation|platelet degranulation|protein folding|provirus integration|regulation of viral genome replication|RNA-dependent DNA replication|uncoating of virus	cytosol|extracellular region|nucleus	peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding|virion binding	g.chr7:44839402delC	X52851	CCDS5494.1, CCDS75592.1	7p13	2010-03-23			ENSG00000196262	ENSG00000196262	5.2.1.8		9253	protein-coding gene	gene with protein product		123840				1989998, 2197089	Standard	XM_005249791		Approved	CYPA	uc003tlw.3	P62937	OTTHUMG00000023687	ENST00000468812.1:c.291delC	7.37:g.44839402delC	ENSP00000419425:p.Ile97fs					PPIA_ENST00000489459.1_Frame_Shift_Del_p.I37fs|PPIA_ENST00000355968.6_Frame_Shift_Del_p.I37fs|PPIA_ENST00000451562.1_Frame_Shift_Del_p.I97fs|PPIA_ENST00000480603.1_3'UTR	p.I97fs	NM_021130.3	NP_066953.1	P62937	PPIA_HUMAN			4	336	+			97			PPIase cyclophilin-type.		A8K220|P05092|Q3KQW3|Q567Q0|Q6IBU5|Q96IX3|Q9BRU4|Q9BTY9|Q9UC61	Frame_Shift_Del	DEL	ENST00000468812.1	37	c.291delC	CCDS5494.1																																																																																				0.483	PPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251293.1	NM_021130		18	59						18	59	---	---	---	---
STAG3L2	442582	broad.mit.edu	37	7	74306371	74306372	+	RNA	INS	-	-	G	rs587739207	byFrequency	TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr7:74306371_74306372insG	ENST00000423186.1	-	0	296							P0CL84	ST3L2_HUMAN	stromal antigen 3-like 2 (pseudogene)							nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						GCGCAGTGGGCGGGGGGCCCCG	0.733													?|GGGGGG|GGGGGGG|unsure	4	0.000798722	0.0015	0.0	5008	,	,		13825	0.0		0.002	False		,,,				2504	0.0					ENST00000423186.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5																																														0					nucleus	binding	g.chr7:74306371_74306372insG			7q11.23	2013-06-26	2013-06-26			ENSG00000277072			33886	pseudogene	pseudogene			"""stromal antigen 3-like 2"""				Standard	NR_040584		Approved	MGC131759, STAG3L2P	uc011kfj.2	P0CL84	OTTHUMG00000156216		7.37:g.74306377_74306377dupG										P0CL84	ST3L2_HUMAN			0	296	-								A6NMT8|A8K0A1|Q32NE4|Q6NXR2|Q7L5M5|Q7Z5K6	RNA	INS	ENST00000423186.1	37																																																																																						0.733	STAG3L2-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000343523.2	NM_001025202		2	4						2	4	---	---	---	---
HERC2P2	400322	broad.mit.edu	37	15	23331163	23331163	+	RNA	DEL	A	A	-			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr15:23331163delA	ENST00000560464.1	-	0	908									hect domain and RLD 2 pseudogene 2																		AATAAATACTAAAAAAAAAAA	0.368																																						ENST00000560464.1																			0																																																			0							g.chr15:23331163delA	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23331163delA														0	908	-									RNA	DEL	ENST00000560464.1	37																																																																																						0.368	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			4	6						4	6	---	---	---	---
KIZ-AS1	101929591	broad.mit.edu	37	20	21146805	21146805	+	RNA	DEL	G	G	-			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr20:21146805delG	ENST00000591761.1	-	0	5051				PLK1S1_ENST00000457464.1_RNA																							TTTTTTTTTTGTCCATGAGGC	0.383																																						ENST00000591761.1																			0																																																			0							g.chr20:21146805delG																													20.37:g.21146805delG						PLK1S1_ENST00000457464.1_RNA								0	5051	-									RNA	DEL	ENST00000591761.1	37																																																																																						0.383	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			3	6						3	6	---	---	---	---
